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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-117921219-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=117921219&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CCDC93",
"hgnc_id": 25611,
"hgvs_c": "c.1843-823G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_019044.5",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000290590",
"hgnc_id": null,
"hgvs_c": "n.282-441C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000434708.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 54897,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.95,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.949999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6833,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_019044.5",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1843-823G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376300.7",
"protein_coding": true,
"protein_id": "NP_061917.3",
"strand": false,
"transcript": "NM_019044.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6833,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376300.7",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1843-823G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019044.5",
"protein_coding": true,
"protein_id": "ENSP00000365477.2",
"strand": false,
"transcript": "ENST00000376300.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434708.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000290590",
"hgvs_c": "n.282-441C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000434708.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 656,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": null,
"cds_end": null,
"cds_length": 1971,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884940.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1918-823G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554999.1",
"strand": false,
"transcript": "ENST00000884940.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 637,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6975,
"cdna_start": null,
"cds_end": null,
"cds_length": 1914,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951763.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1861-823G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621822.1",
"strand": false,
"transcript": "ENST00000951763.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 636,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6917,
"cdna_start": null,
"cds_end": null,
"cds_length": 1911,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951764.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1858-823G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621823.1",
"strand": false,
"transcript": "ENST00000951764.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 630,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6896,
"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000319432.9",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1840-823G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324135.5",
"strand": false,
"transcript": "ENST00000319432.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 630,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6922,
"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884938.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1840-823G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554997.1",
"strand": false,
"transcript": "ENST00000884938.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 630,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6815,
"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884939.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1840-823G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554998.1",
"strand": false,
"transcript": "ENST00000884939.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6818,
"cdna_start": null,
"cds_end": null,
"cds_length": 1893,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000926450.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1840-823G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596509.1",
"strand": false,
"transcript": "ENST00000926450.1",
"transcript_support_level": null
},
{
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"aa_length": 629,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6899,
"cdna_start": null,
"cds_end": null,
"cds_length": 1890,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
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"feature": "ENST00000926449.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1837-823G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596508.1",
"strand": false,
"transcript": "ENST00000926449.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": null,
"cds_end": null,
"cds_length": 1809,
"cds_start": null,
"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000951766.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1756-823G>A",
"hgvs_p": null,
"intron_rank": 22,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621825.1",
"strand": false,
"transcript": "ENST00000951766.1",
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},
{
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000951765.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1729-823G>A",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621824.1",
"strand": false,
"transcript": "ENST00000951765.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6830,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 24,
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"feature": "XM_011511359.2",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1840-823G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011509661.2",
"strand": false,
"transcript": "XM_011511359.2",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "XM_011511361.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1555-823G>A",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509663.1",
"strand": false,
"transcript": "XM_011511361.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 6463,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444816.1",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "c.1444-823G>A",
"hgvs_p": null,
"intron_rank": 20,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047300772.1",
"strand": false,
"transcript": "XM_047444816.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000437999.5",
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"hgvs_c": "n.*483-823G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000392989.1",
"strand": false,
"transcript": "ENST00000437999.5",
"transcript_support_level": 3
},
{
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"biotype": "pseudogene",
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"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000820123.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000290590",
"hgvs_c": "n.278-441C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000820123.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs9284719",
"effect": "intron_variant",
"frequency_reference_population": 0.3643864,
"gene_hgnc_id": 25611,
"gene_symbol": "CCDC93",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 54897,
"gnomad_genomes_af": 0.364386,
"gnomad_genomes_homalt": 10801,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 10801,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.538,
"pos": 117921219,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_019044.5"
}
]
}